Phenotypes Associated with This Genotype

Genotype
MGI:6357191

• Allelic Composition: Cep250^tm1Jzb/Cep250^tm1Jzb
• Genetic Background: involves: C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

vision/eye

abnormal retina blood vessel morphology ( J:276510 )

• blood vessels in the retina are slightly thinner at P90

• dye leakage from the retinal vessels is seen at P90

retina photoreceptor degeneration ( J:276510 )

abnormal retina outer nuclear layer morphology ( J:276510 )

• morphological changes of the outer nuclear layer

thin retina outer nuclear layer ( J:276510 )

• thinner at P45

decreased total retina thickness ( J:276510 )

• the whole retina is thinner at P90 but retinal lamination is normal at P30

retina degeneration ( J:276510 )

abnormal electroretinogram waveform feature ( J:276510 )

• mice show progressive impairment of retinal function from P90 to P180

decreased a-wave amplitude ( J:276510 )

• mice show a lower a-wave amplitude in scotopic ERG responses at P90 and P180, but not at P30

decreased b-wave amplitude ( J:276510 )

• mice show a lower b-wave amplitude in scotopic ERG responses at P90 and P180

• mice show a decrease in b-wave amplitude in the photopic response at the highest stimulus intensity at P90

nervous system

retina photoreceptor degeneration ( J:276510 )

cardiovascular system

abnormal retina blood vessel morphology ( J:276510 )

• blood vessels in the retina are slightly thinner at P90

• dye leakage from the retinal vessels is seen at P90

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
retinitis pigmentosa		DOID:10584	OMIM:PS268000	J:276510